This year marks the 10th edition of our popular Genetics Matters – a Rare Disease Day event. Over the years we have chatted to over 900 people, exhibited work by 20+ genetic and rare disease laboratories, interacted with multiple charities and patient organisations and worked tirelessly to raise awareness of rare diseases and rare disease research in the North East.
We are really looking forward to seeing everyone at the Great North Museum: Hancock this Saturday at 10am. There will be presentations, debates, hands on experiments, microscopes, activities, enthusiastic scientists, free lunch, and some yummy cake.
Event agenda
09:30-10:10 Arrival and tea/coffee
10:10-10:15 Welcome – Kasia Pirog
10:15-10:30 Introduction to the rare disease landscape at Newcastle – John Sayer
10:30-10:50 Jordi Diaz-Manera: Presenting the MyoGuide – a resource to advance diagnosis and research in neuromuscular diseases
10:50-11:10 Sophie Hambleton: What are ‘Advanced Therapies’ and what hope do they offer for people living with a rare disease?
11:10-11:30 Annette Pantall: A patient’s perspective on the importance of genetics and novel therapies
11:30-11:50 Carly Nicklin: Anthony Nolan, a pioneering UK charity that saves the lives of people with blood cancer and blood disorders by managing a stem cell donor register
11:50-12:30 Debate: How do we get more treatments to the people who need them? In the absence of medicines and cures for many conditions, how do we help patients live their best lives? How do we address inequities for people living with a rare disease?
12:30-13:00 Lunch (buffet)
13:00-15:00 Round tables (lab demos, hands on activities, approx. 10-15 min per table)
Kasia is presenting a seminar on rare diseases and drug repurposing this week as part of the Explore Lifelong Learning season 1 of lectures. We hope to see some of you there!
A fun day of science, with hands on experiments, patient and scientist talks, and an opportunity to learn and network, Genetics Matters has become a feature in the North east’s rare disease calendar. Join us on the 2nd of March to celebrate rare diseases and rare disease research in the North East, share your experiences, and find out more about rare diseases.
The Great Hall at the Discovery Museum was abuzz with science and exciting conversations last Sunday as Newcastle university researchers, rare disease patients and members of the public gathered to celebrate the International Rare Disease Day.
With 104 attendees and 40 enthusiastic scientists, a wonderful panel debate on achievements and challenges in rare disease research, exciting hands on experiments (building a 3D skin model, DNA extraction, osteoarthritis diagnosis, muscle MRI scans, art installations and many more) and lovely food, we had an amazing day!
We’d like to thank all the presenters and attendees for participating in our event. We hope you enjoyed it as much as we did, and we hope to see you next year again!
Some feedback from our participants:
[The event] was great, no need for improvement!
Thank you for hosting such an amazing event!
Loved each and every bit.
Thank you for recommending this, I had a really great time! […] Everyone there was really nice and the activities were so fun
Many thanks to you all for giving your weekend to educate and entertain us.
We’re organising Genetics Matters again! Genetics Matters is a free annual event showcasing rare disease and genetic research at Newcastle, with hands-on experiments, laboratory demonstrations, scientist talks and free refreshments.
Our annual International Rare Disease Day event is back. In 2024 it will be bigger and better, with more research tables, more satellite events and really interesting talks. Watch this space!
